- Corneal dystrophy (HP:0001131): The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. Evidence: IEA. (OMIM:217600)
- Central corneal dystrophy (HP:0007881). Evidence: IEA. (OMIM:217600)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:217600)
These phenotypes are associated with the disease central cloudy dystrophy of François (OMIM:217600).